Linked Data
dbSNP Id:
rs753211899
ExAC:
19:7125366 T / G
gnomAD v2:
19-7125366-T-G
gnomAD v4:
19-7125355-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125355T>G , CM000681.2:g.7125355T>G | GRCh38 |
| NC_000019.9:g.7125366T>G , CM000681.1:g.7125366T>G | GRCh37 |
| NC_000019.8:g.7076366T>G | NCBI36 |
| NG_008852.2:g.173646A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3186A>C MANE Select | ENSP00000303830.4:p.Ser1062= | |
| ENST00000302850.9:c.3186A>C | ENSP00000303830.4:p.Ser1062= | |
| ENST00000341500.9:c.3150A>C | ENSP00000342838.4:p.Ser1050= | |
| ENST00000593970.1:n.32A>C | ||
| NM_000208.2:c.3186A>C | NP_000199.2:p.Ser1062= | |
| NM_000208.3:c.3186A>C | NP_000199.2:p.Ser1062= | |
| NM_001079817.1:c.3150A>C | NP_001073285.1:p.Ser1050= | |
| NM_001079817.2:c.3150A>C | NP_001073285.1:p.Ser1050= | |
| XM_011527988.1:c.3261A>C | XP_011526290.1:p.Ser1087= | |
| XM_011527989.1:c.3225A>C | XP_011526291.1:p.Ser1075= | |
| XM_011527988.2:c.3183A>C | XP_011526290.2:p.Ser1061= | |
| XM_011527989.3:c.3147A>C | XP_011526291.2:p.Ser1049= | |
| NM_000208.4:c.3186A>C MANE Select | NP_000199.2:p.Ser1062= | |
| NM_001079817.3:c.3150A>C | NP_001073285.1:p.Ser1050= |